Variant report

Variant	rs6559177
Chromosome Location	chr8:6567422-6567423
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT5A	chr8:6565085-6567738	GM12878	blood:	n/a	chr8:6565688-6565700 chr8:6565208-6565215
2	MYC	chr8:6565655-6567549	MCF10A-Er-Src	breast:	n/a	chr8:6566527-6566538 chr8:6565837-6565846 chr8:6566528-6566537 chr8:6566527-6566538
3	STAT5A	chr8:6566640-6567648	GM12878	blood:	n/a	n/a
4	POLR2A	chr8:6563393-6568475	GM18505	blood:	n/a	n/a
5	POLR2A	chr8:6567081-6568106	GM12878	blood:	n/a	n/a
6	GATA1	chr8:6565217-6567957	PBDE	blood:	n/a	n/a
7	MEF2A	chr8:6567045-6567528	K562	blood:	n/a	chr8:6567288-6567309 chr8:6567288-6567309 chr8:6567293-6567302 chr8:6567290-6567305 chr8:6567289-6567304 chr8:6567289-6567305
8	ATF2	chr8:6564823-6567769	GM12878	blood:	n/a	n/a
9	PML	chr8:6564863-6568603	GM12878	blood:	n/a	n/a
10	IRF1	chr8:6565125-6567726	K562	blood:	n/a	chr8:6566643-6566657 chr8:6567173-6567187 chr8:6566106-6566115 chr8:6565798-6565807 chr8:6567172-6567184 chr8:6566856-6566868
11	POLR2A	chr8:6565160-6567838	GM19193	blood:	n/a	n/a
12	POLR2A	chr8:6565179-6567482	GM12878	blood:	n/a	n/a
13	POLR2A	chr8:6564880-6568149	GM12878	blood:	n/a	n/a
14	POLR2A	chr8:6565042-6567643	GM12892	blood:	n/a	n/a
15	IRF1	chr8:6564978-6567455	K562	blood:	n/a	chr8:6566643-6566657 chr8:6567173-6567187 chr8:6566106-6566115 chr8:6565798-6565807 chr8:6567172-6567184 chr8:6566856-6566868
16	POLR2A	chr8:6564875-6568226	GM12892	blood:	n/a	n/a
17	MTA3	chr8:6566084-6568380	GM12878	blood:	n/a	n/a
18	EP300	chr8:6566485-6567750	K562	blood:	n/a	chr8:6567235-6567249 chr8:6567420-6567434
19	CCNT2	chr8:6567326-6567906	K562	blood:	n/a	n/a
20	YY1	chr8:6567161-6567472	GM12891	blood:	n/a	chr8:6567322-6567341
21	BCLAF1	chr8:6565082-6568240	GM12878	blood:	n/a	chr8:6565887-6565900 chr8:6566647-6566660 chr8:6566634-6566643 chr8:6565982-6565995
22	MEF2A	chr8:6566992-6567537	GM12878	blood:	n/a	chr8:6567288-6567309 chr8:6567288-6567309 chr8:6567293-6567302 chr8:6567290-6567305 chr8:6567289-6567304 chr8:6567289-6567305
23	POLR2A	chr8:6563528-6568801	GM12878	blood:	n/a	n/a
24	TBL1XR1	chr8:6565538-6567782	GM12878	blood:	n/a	n/a
25	RELA	chr8:6565068-6567454	GM19099	blood:	n/a	n/a
26	POLR2A	chr8:6567046-6568035	GM12891	blood:	n/a	n/a
27	POLR2A	chr8:6567389-6567595	MCF10A-Er-Src	breast:	n/a	n/a
28	YY1	chr8:6567116-6567459	GM12878	blood:	n/a	chr8:6567322-6567341
29	MYC	chr8:6565404-6567677	A549	lung:	n/a	chr8:6566527-6566538 chr8:6565837-6565846 chr8:6567589-6567598 chr8:6566528-6566537 chr8:6566527-6566538
30	FOXM1	chr8:6565059-6567537	GM12878	blood:	n/a	n/a
31	CHD1	chr8:6565011-6568398	GM12878	blood:	n/a	chr8:6566145-6566155
32	NFIC	chr8:6566060-6567575	GM12878	blood:	n/a	n/a
33	POLR2A	chr8:6565110-6567799	PBDE	blood:	n/a	n/a
34	MYC	chr8:6565076-6567560	K562	blood:	n/a	chr8:6566527-6566538 chr8:6565837-6565846 chr8:6566528-6566537 chr8:6566527-6566538
35	BHLHE40	chr8:6565147-6567748	GM12878	blood:	n/a	chr8:6566447-6566463 chr8:6566528-6566537 chr8:6566528-6566537 chr8:6565732-6565748
36	NFATC1	chr8:6566060-6568043	GM12878	blood:	n/a	n/a
37	POLR2A	chr8:6565183-6567699	GM18951	blood:	n/a	n/a
38	RELA	chr8:6565197-6567459	GM18505	blood:	n/a	n/a
39	ATF2	chr8:6567005-6567622	GM12878	blood:	n/a	n/a
40	MXI1	chr8:6564946-6567978	GM12878	blood:	n/a	n/a
41	NFIC	chr8:6567027-6568194	GM12878	blood:	n/a	n/a
42	RUNX3	chr8:6565184-6567759	GM12878	blood:	n/a	n/a
43	POLR2A	chr8:6567098-6567874	GM12891	blood:	n/a	n/a
44	ZNF384	chr8:6566169-6567472	K562	blood:	n/a	n/a
45	RELA	chr8:6565183-6567475	GM10847	blood:	n/a	n/a
46	WRNIP1	chr8:6567218-6567435	GM12878	blood:	n/a	n/a
47	POLR2A	chr8:6567066-6567569	GM12891	blood:	n/a	n/a
48	POLR2A	chr8:6567231-6567443	GM12878	blood:	n/a	n/a
49	POLR2A	chr8:6565281-6567476	K562	blood:	n/a	n/a
50	TAF1	chr8:6567117-6567458	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:6285374..6287527-chr8:6566715..6569546,2	K562	blood:
2	chr8:6263912..6265972-chr8:6565205..6568456,4	K562	blood:
3	chr8:6565037..6567895-chr8:6594661..6596413,3	K562	blood:
4	chr8:6567182..6570049-chr8:6639193..6642155,2	K562	blood:
5	chr8:6564149..6568070-chr8:6601682..6607895,12	K562	blood:
6	chr8:6262974..6265715-chr8:6564962..6567789,4	MCF-7	breast:
7	chr8:6566710..6569259-chr8:6614504..6616089,2	K562	blood:
8	chr8:6566568..6569324-chr8:6619809..6622501,2	K562	blood:
9	chr8:6564149..6568457-chr8:6601682..6605924,8	K562	blood:
10	chr11:62607824..62609645-chr8:6566131..6568713,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249898	TF binding region
ENSG00000155189	Chromatin interaction
ENSG00000246089	Chromatin interaction
ENSG00000266038	Chromatin interaction
ENSG00000147316	Chromatin interaction
ENSG00000133316	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10096753	0.84[EUR][1000 genomes]
rs10108451	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10110103	0.84[EUR][1000 genomes]
rs11986408	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11986409	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11996255	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11996256	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1365042	0.86[EUR][1000 genomes]
rs1365043	0.85[EUR][1000 genomes]
rs1559744	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1559748	0.84[EUR][1000 genomes]
rs1971312	0.82[EUR][1000 genomes]
rs2408444	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28476773	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2911976	0.80[EUR][1000 genomes]
rs2911977	0.80[EUR][1000 genomes]
rs2911978	0.81[EUR][1000 genomes]
rs2911982	0.88[ASN][1000 genomes]
rs2911983	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2928618	0.86[EUR][1000 genomes]
rs2928619	0.86[EUR][1000 genomes]
rs2928621	0.86[EUR][1000 genomes]
rs2928623	0.84[EUR][1000 genomes]
rs2928626	0.83[EUR][1000 genomes]
rs2980680	0.80[EUR][1000 genomes]
rs2980683	0.80[EUR][1000 genomes]
rs2980684	0.80[EUR][1000 genomes]
rs2980690	0.82[EUR][1000 genomes]
rs2980692	0.84[EUR][1000 genomes]
rs3780087	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6559178	0.84[EUR][1000 genomes]
rs992812	0.98[ASN][1000 genomes]
rs992813	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021175	chr8:5965453-6880364	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1027682	chr8:6018123-6920312	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1015981	chr8:6286575-6578450	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1027313	chr8:6286575-6920312	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv1021684	chr8:6350091-6809455	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	esv2422383	chr8:6362389-6781593	Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv610004	chr8:6402366-6772913	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv1029241	chr8:6411300-6761720	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv933075	chr8:6456475-7366650	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
10	nsv1025976	chr8:6472948-6686972	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
11	nsv933768	chr8:6482944-6618221	Strong transcription Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
12	nsv831220	chr8:6527845-6728491	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
13	nsv1030637	chr8:6545498-6669949	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
14	nsv1034115	chr8:6546984-6665832	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6564000-6567600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr8:6564000-6568400	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr8:6564400-6567800	Active TSS	HepG2	liver
4	chr8:6564400-6568000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:6564600-6567600	Active TSS	Fetal Intestine Small	intestine
6	chr8:6564600-6567600	Active TSS	A549	lung
7	chr8:6564600-6567800	Active TSS	H1 Cell Line	embryonic stem cell
8	chr8:6564600-6567800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:6564600-6568200	Active TSS	HMEC	breast
10	chr8:6564600-6568800	Active TSS	GM12878-XiMat	blood
11	chr8:6564800-6567800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:6564800-6567800	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr8:6564800-6568000	Active TSS	Thymus	Thymus
14	chr8:6564800-6568200	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr8:6564800-6568600	Active TSS	K562	blood
16	chr8:6565000-6567600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:6565000-6567600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr8:6565000-6567600	Active TSS	HSMM	muscle
19	chr8:6565000-6567600	Active TSS	HSMMtube	muscle
20	chr8:6565000-6568000	Active TSS	Fetal Muscle Leg	muscle
21	chr8:6565000-6568000	Active TSS	Placenta	Placenta
22	chr8:6565200-6567600	Active TSS	Fetal Muscle Trunk	muscle
23	chr8:6565200-6567600	Active TSS	Fetal Stomach	stomach
24	chr8:6565200-6567800	Active TSS	NHLF	lung
25	chr8:6565200-6568000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr8:6565400-6567600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:6565400-6567600	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr8:6565800-6567600	Active TSS	Colonic Mucosa	Colon
29	chr8:6566200-6567800	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr8:6566200-6568000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr8:6566200-6568200	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr8:6566400-6568400	Flanking Active TSS	HUVEC	blood vessel
33	chr8:6566600-6568400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:6566600-6568400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr8:6566600-6568400	Active TSS	Brain Germinal Matrix	brain
36	chr8:6566800-6567600	Flanking Active TSS	Primary T cells from cord blood	blood
37	chr8:6566800-6567800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:6566800-6567800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr8:6566800-6567800	Flanking Active TSS	Fetal Lung	lung
40	chr8:6566800-6568200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr8:6566800-6575800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr8:6566800-6575800	Weak transcription	Spleen	Spleen
43	chr8:6567000-6567600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr8:6567000-6567600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:6567000-6567600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr8:6567000-6567600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr8:6567000-6567800	Enhancers	Brain Substantia Nigra	brain
48	chr8:6567000-6569200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr8:6567000-6569200	Weak transcription	Esophagus	oesophagus
50	chr8:6567000-6569200	Weak transcription	Lung	lung

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